@article{hbkup:/content/journals/10.5339/qmj.2015.11, author = "Alshabab, Lina Ibrahem Sheikh and Alebrahem, Asad and Kaddoura, Ahmad and Al-Fahoum, Sahar", title = "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A five-year retrospective study in the Children's Hospital of Damascus, Syria", journal= "Qatar Medical Journal", year = "2015", volume = "2015", number = "1", pages = "", doi = "https://doi.org/10.5339/qmj.2015.11", url = "https://www.qscience.com/content/journals/10.5339/qmj.2015.11", publisher = "Hamad bin Khalifa University Press (HBKU Press)", issn = "2227-0426", type = "Journal Article", keywords = "congenital adrenal hyperplasia", keywords = "salt wasting type", keywords = "simple virilizing type", keywords = "21-hydroxylase deficiency", eid = "11", abstract = "Background: Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. 21-hydroxylase deficiency is responsible for the majority of cases (90-95%) and considered the most common cause of genital ambiguity. There are no statistics concerning the prevalence of this disorder in Syria, although the high rate of consanguineous marriages indicates a possible high prevalence. Objectives: This study aims to collect baseline information about CAH in Syria to evaluate the potential need of a screening program. Subjects and Methods: All medical records of inpatients who had CAH as a final or presumptive diagnosis at the Children's Hospital of Damascus between 2008–2012, or were diagnosed elsewhere and then admitted at the hospital for the first time within the same period, were retrospectively reviewed and divided into two groups: confirmed and suspected cases. Results: Eighty-nine cases were confirmed, 25 were still suspected. Of the 89 confirmed cases: 20 (22.5%) were males, 66 (74.1%) were females, and 3 were ambiguous. Sixty-one patients (68.5%) were of the salt wasting type and 28 (31.5%) were of the simple virilizing type. The mortality rate was 6.7%. Thirty-two females were assigned as males at birth. Seventeen cases (19.1%) underwent previous hospitalization. 69.7% of patients were not diagnosed during the first month of life. Of the 25 suspected cases: 12 were males, 8 were females and 5 were ambiguous. Confirmatory tests had not been performed because of death in 7 patients (28%) and early discharge upon parental request in another 7 patients (28%). Conclusion: A mandatory screening program for CAH in Syria seems necessary due to the obvious lack of awareness, delayed diagnosis and high expected prevalence. However, further efforts are needed to confirm the effectiveness of such a program in the Syrian society.", }